Download as ppt, pdf, or txt
Download as ppt, pdf, or txt
You are on page 1of 11

Xeroderma

Pigmentosum(XP)

We owe our lives to light from the sun,which


provides the energy captured during
photosynthesis ( ).
But the sun also emits a constant stream of
ultraviolet rays that ages and mutates the cells
of our skin.
The hazardous effects of the sun are most
dramatically illustrated by the rare recessive
genetic disorder , Xeroderma Pigmentosum(XP) .

Patients with XP possess a dificient repair system that


cannot remove segments of DNA damaged by
ultraviolet( ) radiation.

As a result ,person with XP


are extremely sensitive to
sunlight
Even very limited exposure to
the direct rays of the sun can
produce large numbers of
dark-pigmented spots on
exposed areas of the body
and a greatly elevated risk of
developing disfiguring and
fatal skin cancers.

The mechanism about XP


------nucleotide excision repair deficiency
( )

When subjected to
ultraviolet radiation
,adjacent( )
pyrimidines( ) on a
DNA strand have a
tendency to interact with
one another to form a
covalent( ) dimer
complex.(example as TT-- )

Once TT is
formed,
ultraviolet radiated
DNA will not be
repaired correctly.
The replication and
the transcription of
DNA will be
influenced
seriously.

THF II H--- a crucial link between transcription


and DNA repair

XPB and XPD are two subunits of THF II H

In persons with XP who carry


specific mutations in the XPD
gene.
XPD gene encodes a subunit
of the TFII H required for
transcription initiation( )
So, Mutations in XPD could
lead to defect( ) in both
DNA repair and transcription

nucleotide excision repair

How to help XP patients?


Some help for XP patients may be on the way in the
form of skin creams that contain DNA repair enzymes.
The enzyme are contained in liposomes( )
that can apparently penetrate ( ) the outer layer
of the skin and participate in repair pathways

XP is a very rare condition ,but colon cancer(


) is relatively common.
It is estimated that up to 15 percent of colon
cancer cases can be attributed to mutations in the
genes that encode the proteins required for
mismatch repair.
Mutations that cripple the mismatch repair system
inevitably lead to higher mutation rate in other
genes because mistakes made during replication
are not corrected.

You might also like